Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.178591103_178591104delinsTA | CA1310539820 | TTN,TTN-AS1 | c.52917_52918delinsTA (p.Tyr17639=) c.34002_34003delinsTA (p.Tyr11334=) c.33801_33802delinsTA (p.Tyr11267=) c.33426_33427delinsTA (p.Tyr11142=) c.60621_60622delinsTA (p.Tyr20207=) c.55698_55699delinsTA (p.Tyr18566=) n.597-6493_597-6492delinsTA n.3189-36_3189-35delinsTA c.59718_59719delinsTA (p.Tyr19906=) c.33612_33613delinsTA (p.Tyr11204=) c.33471_33472delinsTA (p.Tyr11157=) c.59514_59515delinsTA (p.Tyr19838=) c.54912_54913delinsTA (p.Tyr18304=) c.54909_54910delinsTA (p.Tyr18303=) c.51951_51952delinsTA (p.Tyr17317=) c.33567_33568delinsTA (p.Tyr11189=) c.55062_55063delinsTA (p.Tyr18354=) c.55059_55060delinsTA (p.Tyr18353=) c.54492_54493delinsTA (p.Tyr18164=) c.51834_51835delinsTA (p.Tyr17278=) c.51753_51754delinsTA (p.Tyr17251=) c.33516_33517delinsTA (p.Tyr11172=) c.23370_23371delinsTA (p.Tyr7790=) | |
2 | g.178591104del | CA16610432 | TTN,TTN-AS1 | c.52917del (p.Tyr17639Ter) c.34002del (p.Tyr11334Ter) c.33801del (p.Tyr11267Ter) c.33426del (p.Tyr11142Ter) c.60621del (p.Tyr20207Ter) c.55698del (p.Tyr18566Ter) n.597-6492del n.3189-35del c.59718del (p.Tyr19906Ter) c.33612del (p.Tyr11204Ter) c.33471del (p.Tyr11157Ter) c.59514del (p.Tyr19838Ter) c.54912del (p.Tyr18304Ter) c.54909del (p.Tyr18303Ter) c.51951del (p.Tyr17317Ter) c.33567del (p.Tyr11189Ter) c.55062del (p.Tyr18354Ter) c.55059del (p.Tyr18353Ter) c.54492del (p.Tyr18164Ter) c.51834del (p.Tyr17278Ter) c.51753del (p.Tyr17251Ter) c.33516del (p.Tyr11172Ter) c.23370del (p.Tyr7790Ter) | ClinVar dbSNP |
2 | g.178591104A= | CA1310539822 | TTN,TTN-AS1 | c.52917T= (p.Tyr17639=) c.34002T= (p.Tyr11334=) c.33801T= (p.Tyr11267=) c.33426T= (p.Tyr11142=) c.60621T= (p.Tyr20207=) c.55698T= (p.Tyr18566=) n.597-6492A= n.3189-35A= c.59718T= (p.Tyr19906=) c.33612T= (p.Tyr11204=) c.33471T= (p.Tyr11157=) c.59514T= (p.Tyr19838=) c.54912T= (p.Tyr18304=) c.54909T= (p.Tyr18303=) c.51951T= (p.Tyr17317=) c.33567T= (p.Tyr11189=) c.55062T= (p.Tyr18354=) c.55059T= (p.Tyr18353=) c.54492T= (p.Tyr18164=) c.51834T= (p.Tyr17278=) c.51753T= (p.Tyr17251=) c.33516T= (p.Tyr11172=) c.23370T= (p.Tyr7790=) | |
2 | g.178591104A>C | CA349481116 | TTN,TTN-AS1 | c.52917T>G (p.Tyr17639Ter) c.34002T>G (p.Tyr11334Ter) c.33801T>G (p.Tyr11267Ter) c.33426T>G (p.Tyr11142Ter) c.60621T>G (p.Tyr20207Ter) c.55698T>G (p.Tyr18566Ter) n.597-6492A>C n.3189-35A>C c.59718T>G (p.Tyr19906Ter) c.33612T>G (p.Tyr11204Ter) c.33471T>G (p.Tyr11157Ter) c.59514T>G (p.Tyr19838Ter) c.54912T>G (p.Tyr18304Ter) c.54909T>G (p.Tyr18303Ter) c.51951T>G (p.Tyr17317Ter) c.33567T>G (p.Tyr11189Ter) c.55062T>G (p.Tyr18354Ter) c.55059T>G (p.Tyr18353Ter) c.54492T>G (p.Tyr18164Ter) c.51834T>G (p.Tyr17278Ter) c.51753T>G (p.Tyr17251Ter) c.33516T>G (p.Tyr11172Ter) c.23370T>G (p.Tyr7790Ter) | |
2 | g.178591104A>G | CA308959 | TTN,TTN-AS1 | c.52917T>C (p.Tyr17639=) c.34002T>C (p.Tyr11334=) c.33801T>C (p.Tyr11267=) c.33426T>C (p.Tyr11142=) c.60621T>C (p.Tyr20207=) c.55698T>C (p.Tyr18566=) n.597-6492A>G n.3189-35A>G c.59718T>C (p.Tyr19906=) c.33612T>C (p.Tyr11204=) c.33471T>C (p.Tyr11157=) c.59514T>C (p.Tyr19838=) c.54912T>C (p.Tyr18304=) c.54909T>C (p.Tyr18303=) c.51951T>C (p.Tyr17317=) c.33567T>C (p.Tyr11189=) c.55062T>C (p.Tyr18354=) c.55059T>C (p.Tyr18353=) c.54492T>C (p.Tyr18164=) c.51834T>C (p.Tyr17278=) c.51753T>C (p.Tyr17251=) c.33516T>C (p.Tyr11172=) c.23370T>C (p.Tyr7790=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178591104A>T | CA349481114 | TTN,TTN-AS1 | c.52917T>A (p.Tyr17639Ter) c.34002T>A (p.Tyr11334Ter) c.33801T>A (p.Tyr11267Ter) c.33426T>A (p.Tyr11142Ter) c.60621T>A (p.Tyr20207Ter) c.55698T>A (p.Tyr18566Ter) n.597-6492A>T n.3189-35A>T c.59718T>A (p.Tyr19906Ter) c.33612T>A (p.Tyr11204Ter) c.33471T>A (p.Tyr11157Ter) c.59514T>A (p.Tyr19838Ter) c.54912T>A (p.Tyr18304Ter) c.54909T>A (p.Tyr18303Ter) c.51951T>A (p.Tyr17317Ter) c.33567T>A (p.Tyr11189Ter) c.55062T>A (p.Tyr18354Ter) c.55059T>A (p.Tyr18353Ter) c.54492T>A (p.Tyr18164Ter) c.51834T>A (p.Tyr17278Ter) c.51753T>A (p.Tyr17251Ter) c.33516T>A (p.Tyr11172Ter) c.23370T>A (p.Tyr7790Ter) | |
2 | g.178591105T>A | CA349481122 | TTN,TTN-AS1 | c.52916A>T (p.Tyr17639Phe) c.34001A>T (p.Tyr11334Phe) c.33800A>T (p.Tyr11267Phe) c.33425A>T (p.Tyr11142Phe) c.60620A>T (p.Tyr20207Phe) c.55697A>T (p.Tyr18566Phe) n.597-6491T>A n.3189-34T>A c.59717A>T (p.Tyr19906Phe) c.33611A>T (p.Tyr11204Phe) c.33470A>T (p.Tyr11157Phe) c.59513A>T (p.Tyr19838Phe) c.54911A>T (p.Tyr18304Phe) c.54908A>T (p.Tyr18303Phe) c.51950A>T (p.Tyr17317Phe) c.33566A>T (p.Tyr11189Phe) c.55061A>T (p.Tyr18354Phe) c.55058A>T (p.Tyr18353Phe) c.54491A>T (p.Tyr18164Phe) c.51833A>T (p.Tyr17278Phe) c.51752A>T (p.Tyr17251Phe) c.33515A>T (p.Tyr11172Phe) c.23369A>T (p.Tyr7790Phe) | |
2 | g.178591105T>C | CA349481133 | TTN,TTN-AS1 | c.52916A>G (p.Tyr17639Cys) c.34001A>G (p.Tyr11334Cys) c.33800A>G (p.Tyr11267Cys) c.33425A>G (p.Tyr11142Cys) c.60620A>G (p.Tyr20207Cys) c.55697A>G (p.Tyr18566Cys) n.597-6491T>C n.3189-34T>C c.59717A>G (p.Tyr19906Cys) c.33611A>G (p.Tyr11204Cys) c.33470A>G (p.Tyr11157Cys) c.59513A>G (p.Tyr19838Cys) c.54911A>G (p.Tyr18304Cys) c.54908A>G (p.Tyr18303Cys) c.51950A>G (p.Tyr17317Cys) c.33566A>G (p.Tyr11189Cys) c.55061A>G (p.Tyr18354Cys) c.55058A>G (p.Tyr18353Cys) c.54491A>G (p.Tyr18164Cys) c.51833A>G (p.Tyr17278Cys) c.51752A>G (p.Tyr17251Cys) c.33515A>G (p.Tyr11172Cys) c.23369A>G (p.Tyr7790Cys) | dbSNP gnomAD v2 |
2 | g.178591105T>G | CA349481135 | TTN,TTN-AS1 | c.52916A>C (p.Tyr17639Ser) c.34001A>C (p.Tyr11334Ser) c.33800A>C (p.Tyr11267Ser) c.33425A>C (p.Tyr11142Ser) c.60620A>C (p.Tyr20207Ser) c.55697A>C (p.Tyr18566Ser) n.597-6491T>G n.3189-34T>G c.59717A>C (p.Tyr19906Ser) c.33611A>C (p.Tyr11204Ser) c.33470A>C (p.Tyr11157Ser) c.59513A>C (p.Tyr19838Ser) c.54911A>C (p.Tyr18304Ser) c.54908A>C (p.Tyr18303Ser) c.51950A>C (p.Tyr17317Ser) c.33566A>C (p.Tyr11189Ser) c.55061A>C (p.Tyr18354Ser) c.55058A>C (p.Tyr18353Ser) c.54491A>C (p.Tyr18164Ser) c.51833A>C (p.Tyr17278Ser) c.51752A>C (p.Tyr17251Ser) c.33515A>C (p.Tyr11172Ser) c.23369A>C (p.Tyr7790Ser) | |
2 | g.178591105T= | CA1310539824 | TTN,TTN-AS1 | c.52916A= (p.Tyr17639=) c.34001A= (p.Tyr11334=) c.33800A= (p.Tyr11267=) c.33425A= (p.Tyr11142=) c.60620A= (p.Tyr20207=) c.55697A= (p.Tyr18566=) n.597-6491T= n.3189-34T= c.59717A= (p.Tyr19906=) c.33611A= (p.Tyr11204=) c.33470A= (p.Tyr11157=) c.59513A= (p.Tyr19838=) c.54911A= (p.Tyr18304=) c.54908A= (p.Tyr18303=) c.51950A= (p.Tyr17317=) c.33566A= (p.Tyr11189=) c.55061A= (p.Tyr18354=) c.55058A= (p.Tyr18353=) c.54491A= (p.Tyr18164=) c.51833A= (p.Tyr17278=) c.51752A= (p.Tyr17251=) c.33515A= (p.Tyr11172=) c.23369A= (p.Tyr7790=) | |
2 | g.178591107_178591111del | CA2577171113 | TTN,TTN-AS1 | c.52912_52916del (p.Asn17638TyrfsTer3) c.33997_34001del (p.Asn11333TyrfsTer3) c.33796_33800del (p.Asn11266TyrfsTer3) c.33421_33425del (p.Asn11141TyrfsTer3) c.60616_60620del (p.Asn20206TyrfsTer3) c.55693_55697del (p.Asn18565TyrfsTer3) n.597-6489_597-6485del n.3189-32_3189-28del c.59713_59717del (p.Asn19905TyrfsTer3) c.33607_33611del (p.Asn11203TyrfsTer3) c.33466_33470del (p.Asn11156TyrfsTer3) c.59509_59513del (p.Asn19837TyrfsTer3) c.54907_54911del (p.Asn18303TyrfsTer3) c.54904_54908del (p.Asn18302TyrfsTer3) c.51946_51950del (p.Asn17316TyrfsTer3) c.33562_33566del (p.Asn11188TyrfsTer3) c.55057_55061del (p.Asn18353TyrfsTer3) c.55054_55058del (p.Asn18352TyrfsTer3) c.54487_54491del (p.Asn18163TyrfsTer3) c.51829_51833del (p.Asn17277TyrfsTer3) c.51748_51752del (p.Asn17250TyrfsTer3) c.33511_33515del (p.Asn11171TyrfsTer3) c.23365_23369del (p.Asn7789TyrfsTer3) | |
2 | g.178591106A>C | CA349481137 | TTN,TTN-AS1 | c.52915T>G (p.Tyr17639Asp) c.34000T>G (p.Tyr11334Asp) c.33799T>G (p.Tyr11267Asp) c.33424T>G (p.Tyr11142Asp) c.60619T>G (p.Tyr20207Asp) c.55696T>G (p.Tyr18566Asp) n.597-6490A>C n.3189-33A>C c.59716T>G (p.Tyr19906Asp) c.33610T>G (p.Tyr11204Asp) c.33469T>G (p.Tyr11157Asp) c.59512T>G (p.Tyr19838Asp) c.54910T>G (p.Tyr18304Asp) c.54907T>G (p.Tyr18303Asp) c.51949T>G (p.Tyr17317Asp) c.33565T>G (p.Tyr11189Asp) c.55060T>G (p.Tyr18354Asp) c.55057T>G (p.Tyr18353Asp) c.54490T>G (p.Tyr18164Asp) c.51832T>G (p.Tyr17278Asp) c.51751T>G (p.Tyr17251Asp) c.33514T>G (p.Tyr11172Asp) c.23368T>G (p.Tyr7790Asp) | |
2 | g.178591106A>G | CA349481138 | TTN,TTN-AS1 | c.52915T>C (p.Tyr17639His) c.34000T>C (p.Tyr11334His) c.33799T>C (p.Tyr11267His) c.33424T>C (p.Tyr11142His) c.60619T>C (p.Tyr20207His) c.55696T>C (p.Tyr18566His) n.597-6490A>G n.3189-33A>G c.59716T>C (p.Tyr19906His) c.33610T>C (p.Tyr11204His) c.33469T>C (p.Tyr11157His) c.59512T>C (p.Tyr19838His) c.54910T>C (p.Tyr18304His) c.54907T>C (p.Tyr18303His) c.51949T>C (p.Tyr17317His) c.33565T>C (p.Tyr11189His) c.55060T>C (p.Tyr18354His) c.55057T>C (p.Tyr18353His) c.54490T>C (p.Tyr18164His) c.51832T>C (p.Tyr17278His) c.51751T>C (p.Tyr17251His) c.33514T>C (p.Tyr11172His) c.23368T>C (p.Tyr7790His) | gnomAD v4 |
2 | g.178591106A>T | CA349481140 | TTN,TTN-AS1 | c.52915T>A (p.Tyr17639Asn) c.34000T>A (p.Tyr11334Asn) c.33799T>A (p.Tyr11267Asn) c.33424T>A (p.Tyr11142Asn) c.60619T>A (p.Tyr20207Asn) c.55696T>A (p.Tyr18566Asn) n.597-6490A>T n.3189-33A>T c.59716T>A (p.Tyr19906Asn) c.33610T>A (p.Tyr11204Asn) c.33469T>A (p.Tyr11157Asn) c.59512T>A (p.Tyr19838Asn) c.54910T>A (p.Tyr18304Asn) c.54907T>A (p.Tyr18303Asn) c.51949T>A (p.Tyr17317Asn) c.33565T>A (p.Tyr11189Asn) c.55060T>A (p.Tyr18354Asn) c.55057T>A (p.Tyr18353Asn) c.54490T>A (p.Tyr18164Asn) c.51832T>A (p.Tyr17278Asn) c.51751T>A (p.Tyr17251Asn) c.33514T>A (p.Tyr11172Asn) c.23368T>A (p.Tyr7790Asn) | |
2 | g.178591107del | CA2586965396 | TTN,TTN-AS1 | c.52915del (p.Tyr17639IlefsTer25) c.34000del (p.Tyr11334IlefsTer25) c.33799del (p.Tyr11267IlefsTer25) c.33424del (p.Tyr11142IlefsTer25) c.60619del (p.Tyr20207IlefsTer25) c.55696del (p.Tyr18566IlefsTer25) n.597-6489del n.3189-32del c.59716del (p.Tyr19906IlefsTer25) c.33610del (p.Tyr11204IlefsTer25) c.33469del (p.Tyr11157IlefsTer25) c.59512del (p.Tyr19838IlefsTer25) c.54910del (p.Tyr18304IlefsTer25) c.54907del (p.Tyr18303IlefsTer25) c.51949del (p.Tyr17317IlefsTer25) c.33565del (p.Tyr11189IlefsTer25) c.55060del (p.Tyr18354IlefsTer25) c.55057del (p.Tyr18353IlefsTer25) c.54490del (p.Tyr18164IlefsTer25) c.51832del (p.Tyr17278IlefsTer25) c.51751del (p.Tyr17251IlefsTer25) c.33514del (p.Tyr11172IlefsTer25) c.23368del (p.Tyr7790IlefsTer25) | |
2 | g.178591107A>C | CA349483509 | TTN,TTN-AS1 | c.52914T>G (p.Asn17638Lys) c.33999T>G (p.Asn11333Lys) c.33798T>G (p.Asn11266Lys) c.33423T>G (p.Asn11141Lys) c.60618T>G (p.Asn20206Lys) c.55695T>G (p.Asn18565Lys) n.597-6489A>C n.3189-32A>C c.59715T>G (p.Asn19905Lys) c.33609T>G (p.Asn11203Lys) c.33468T>G (p.Asn11156Lys) c.59511T>G (p.Asn19837Lys) c.54909T>G (p.Asn18303Lys) c.54906T>G (p.Asn18302Lys) c.51948T>G (p.Asn17316Lys) c.33564T>G (p.Asn11188Lys) c.55059T>G (p.Asn18353Lys) c.55056T>G (p.Asn18352Lys) c.54489T>G (p.Asn18163Lys) c.51831T>G (p.Asn17277Lys) c.51750T>G (p.Asn17250Lys) c.33513T>G (p.Asn11171Lys) c.23367T>G (p.Asn7789Lys) | |
2 | g.178591107A>G | CA430266483 | TTN,TTN-AS1 | c.52914T>C (p.Asn17638=) c.33999T>C (p.Asn11333=) c.33798T>C (p.Asn11266=) c.33423T>C (p.Asn11141=) c.60618T>C (p.Asn20206=) c.55695T>C (p.Asn18565=) n.597-6489A>G n.3189-32A>G c.59715T>C (p.Asn19905=) c.33609T>C (p.Asn11203=) c.33468T>C (p.Asn11156=) c.59511T>C (p.Asn19837=) c.54909T>C (p.Asn18303=) c.54906T>C (p.Asn18302=) c.51948T>C (p.Asn17316=) c.33564T>C (p.Asn11188=) c.55059T>C (p.Asn18353=) c.55056T>C (p.Asn18352=) c.54489T>C (p.Asn18163=) c.51831T>C (p.Asn17277=) c.51750T>C (p.Asn17250=) c.33513T>C (p.Asn11171=) c.23367T>C (p.Asn7789=) | |
2 | g.178591107A>T | CA349483511 | TTN,TTN-AS1 | c.52914T>A (p.Asn17638Lys) c.33999T>A (p.Asn11333Lys) c.33798T>A (p.Asn11266Lys) c.33423T>A (p.Asn11141Lys) c.60618T>A (p.Asn20206Lys) c.55695T>A (p.Asn18565Lys) n.597-6489A>T n.3189-32A>T c.59715T>A (p.Asn19905Lys) c.33609T>A (p.Asn11203Lys) c.33468T>A (p.Asn11156Lys) c.59511T>A (p.Asn19837Lys) c.54909T>A (p.Asn18303Lys) c.54906T>A (p.Asn18302Lys) c.51948T>A (p.Asn17316Lys) c.33564T>A (p.Asn11188Lys) c.55059T>A (p.Asn18353Lys) c.55056T>A (p.Asn18352Lys) c.54489T>A (p.Asn18163Lys) c.51831T>A (p.Asn17277Lys) c.51750T>A (p.Asn17250Lys) c.33513T>A (p.Asn11171Lys) c.23367T>A (p.Asn7789Lys) | |
2 | g.178591108T>A | CA349483514 | TTN,TTN-AS1 | c.52913A>T (p.Asn17638Ile) c.33998A>T (p.Asn11333Ile) c.33797A>T (p.Asn11266Ile) c.33422A>T (p.Asn11141Ile) c.60617A>T (p.Asn20206Ile) c.55694A>T (p.Asn18565Ile) n.597-6488T>A n.3189-31T>A c.59714A>T (p.Asn19905Ile) c.33608A>T (p.Asn11203Ile) c.33467A>T (p.Asn11156Ile) c.59510A>T (p.Asn19837Ile) c.54908A>T (p.Asn18303Ile) c.54905A>T (p.Asn18302Ile) c.51947A>T (p.Asn17316Ile) c.33563A>T (p.Asn11188Ile) c.55058A>T (p.Asn18353Ile) c.55055A>T (p.Asn18352Ile) c.54488A>T (p.Asn18163Ile) c.51830A>T (p.Asn17277Ile) c.51749A>T (p.Asn17250Ile) c.33512A>T (p.Asn11171Ile) c.23366A>T (p.Asn7789Ile) | |
2 | g.178591108T>C | CA349483518 | TTN,TTN-AS1 | c.52913A>G (p.Asn17638Ser) c.33998A>G (p.Asn11333Ser) c.33797A>G (p.Asn11266Ser) c.33422A>G (p.Asn11141Ser) c.60617A>G (p.Asn20206Ser) c.55694A>G (p.Asn18565Ser) n.597-6488T>C n.3189-31T>C c.59714A>G (p.Asn19905Ser) c.33608A>G (p.Asn11203Ser) c.33467A>G (p.Asn11156Ser) c.59510A>G (p.Asn19837Ser) c.54908A>G (p.Asn18303Ser) c.54905A>G (p.Asn18302Ser) c.51947A>G (p.Asn17316Ser) c.33563A>G (p.Asn11188Ser) c.55058A>G (p.Asn18353Ser) c.55055A>G (p.Asn18352Ser) c.54488A>G (p.Asn18163Ser) c.51830A>G (p.Asn17277Ser) c.51749A>G (p.Asn17250Ser) c.33512A>G (p.Asn11171Ser) c.23366A>G (p.Asn7789Ser) | |
2 | g.178591108T>G | CA349483525 | TTN,TTN-AS1 | c.52913A>C (p.Asn17638Thr) c.33998A>C (p.Asn11333Thr) c.33797A>C (p.Asn11266Thr) c.33422A>C (p.Asn11141Thr) c.60617A>C (p.Asn20206Thr) c.55694A>C (p.Asn18565Thr) n.597-6488T>G n.3189-31T>G c.59714A>C (p.Asn19905Thr) c.33608A>C (p.Asn11203Thr) c.33467A>C (p.Asn11156Thr) c.59510A>C (p.Asn19837Thr) c.54908A>C (p.Asn18303Thr) c.54905A>C (p.Asn18302Thr) c.51947A>C (p.Asn17316Thr) c.33563A>C (p.Asn11188Thr) c.55058A>C (p.Asn18353Thr) c.55055A>C (p.Asn18352Thr) c.54488A>C (p.Asn18163Thr) c.51830A>C (p.Asn17277Thr) c.51749A>C (p.Asn17250Thr) c.33512A>C (p.Asn11171Thr) c.23366A>C (p.Asn7789Thr) | |
2 | g.178591109T>A | CA349483528 | TTN,TTN-AS1 | c.52912A>T (p.Asn17638Tyr) c.33997A>T (p.Asn11333Tyr) c.33796A>T (p.Asn11266Tyr) c.33421A>T (p.Asn11141Tyr) c.60616A>T (p.Asn20206Tyr) c.55693A>T (p.Asn18565Tyr) n.597-6487T>A n.3189-30T>A c.59713A>T (p.Asn19905Tyr) c.33607A>T (p.Asn11203Tyr) c.33466A>T (p.Asn11156Tyr) c.59509A>T (p.Asn19837Tyr) c.54907A>T (p.Asn18303Tyr) c.54904A>T (p.Asn18302Tyr) c.51946A>T (p.Asn17316Tyr) c.33562A>T (p.Asn11188Tyr) c.55057A>T (p.Asn18353Tyr) c.55054A>T (p.Asn18352Tyr) c.54487A>T (p.Asn18163Tyr) c.51829A>T (p.Asn17277Tyr) c.51748A>T (p.Asn17250Tyr) c.33511A>T (p.Asn11171Tyr) c.23365A>T (p.Asn7789Tyr) | |
2 | g.178591109T>C | CA349483542 | TTN,TTN-AS1 | c.52912A>G (p.Asn17638Asp) c.33997A>G (p.Asn11333Asp) c.33796A>G (p.Asn11266Asp) c.33421A>G (p.Asn11141Asp) c.60616A>G (p.Asn20206Asp) c.55693A>G (p.Asn18565Asp) n.597-6487T>C n.3189-30T>C c.59713A>G (p.Asn19905Asp) c.33607A>G (p.Asn11203Asp) c.33466A>G (p.Asn11156Asp) c.59509A>G (p.Asn19837Asp) c.54907A>G (p.Asn18303Asp) c.54904A>G (p.Asn18302Asp) c.51946A>G (p.Asn17316Asp) c.33562A>G (p.Asn11188Asp) c.55057A>G (p.Asn18353Asp) c.55054A>G (p.Asn18352Asp) c.54487A>G (p.Asn18163Asp) c.51829A>G (p.Asn17277Asp) c.51748A>G (p.Asn17250Asp) c.33511A>G (p.Asn11171Asp) c.23365A>G (p.Asn7789Asp) | |
2 | g.178591109T>G | CA349483545 | TTN,TTN-AS1 | c.52912A>C (p.Asn17638His) c.33997A>C (p.Asn11333His) c.33796A>C (p.Asn11266His) c.33421A>C (p.Asn11141His) c.60616A>C (p.Asn20206His) c.55693A>C (p.Asn18565His) n.597-6487T>G n.3189-30T>G c.59713A>C (p.Asn19905His) c.33607A>C (p.Asn11203His) c.33466A>C (p.Asn11156His) c.59509A>C (p.Asn19837His) c.54907A>C (p.Asn18303His) c.54904A>C (p.Asn18302His) c.51946A>C (p.Asn17316His) c.33562A>C (p.Asn11188His) c.55057A>C (p.Asn18353His) c.55054A>C (p.Asn18352His) c.54487A>C (p.Asn18163His) c.51829A>C (p.Asn17277His) c.51748A>C (p.Asn17250His) c.33511A>C (p.Asn11171His) c.23365A>C (p.Asn7789His) | |
2 | g.178591110T>A | CA430266484 | TTN,TTN-AS1 | c.52911A>T (p.Ile17637=) c.33996A>T (p.Ile11332=) c.33795A>T (p.Ile11265=) c.33420A>T (p.Ile11140=) c.60615A>T (p.Ile20205=) c.55692A>T (p.Ile18564=) n.597-6486T>A n.3189-29T>A c.59712A>T (p.Ile19904=) c.33606A>T (p.Ile11202=) c.33465A>T (p.Ile11155=) c.59508A>T (p.Ile19836=) c.54906A>T (p.Ile18302=) c.54903A>T (p.Ile18301=) c.51945A>T (p.Ile17315=) c.33561A>T (p.Ile11187=) c.55056A>T (p.Ile18352=) c.55053A>T (p.Ile18351=) c.54486A>T (p.Ile18162=) c.51828A>T (p.Ile17276=) c.51747A>T (p.Ile17249=) c.33510A>T (p.Ile11170=) c.23364A>T (p.Ile7788=) | |
2 | g.178591110T>C | CA349483550 | TTN,TTN-AS1 | c.52911A>G (p.Ile17637Met) c.33996A>G (p.Ile11332Met) c.33795A>G (p.Ile11265Met) c.33420A>G (p.Ile11140Met) c.60615A>G (p.Ile20205Met) c.55692A>G (p.Ile18564Met) n.597-6486T>C n.3189-29T>C c.59712A>G (p.Ile19904Met) c.33606A>G (p.Ile11202Met) c.33465A>G (p.Ile11155Met) c.59508A>G (p.Ile19836Met) c.54906A>G (p.Ile18302Met) c.54903A>G (p.Ile18301Met) c.51945A>G (p.Ile17315Met) c.33561A>G (p.Ile11187Met) c.55056A>G (p.Ile18352Met) c.55053A>G (p.Ile18351Met) c.54486A>G (p.Ile18162Met) c.51828A>G (p.Ile17276Met) c.51747A>G (p.Ile17249Met) c.33510A>G (p.Ile11170Met) c.23364A>G (p.Ile7788Met) | |
2 | g.178591110T>G | CA1992468 | TTN,TTN-AS1 | c.52911A>C (p.Ile17637=) c.33996A>C (p.Ile11332=) c.33795A>C (p.Ile11265=) c.33420A>C (p.Ile11140=) c.60615A>C (p.Ile20205=) c.55692A>C (p.Ile18564=) n.597-6486T>G n.3189-29T>G c.59712A>C (p.Ile19904=) c.33606A>C (p.Ile11202=) c.33465A>C (p.Ile11155=) c.59508A>C (p.Ile19836=) c.54906A>C (p.Ile18302=) c.54903A>C (p.Ile18301=) c.51945A>C (p.Ile17315=) c.33561A>C (p.Ile11187=) c.55056A>C (p.Ile18352=) c.55053A>C (p.Ile18351=) c.54486A>C (p.Ile18162=) c.51828A>C (p.Ile17276=) c.51747A>C (p.Ile17249=) c.33510A>C (p.Ile11170=) c.23364A>C (p.Ile7788=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178591110T= | CA1310539826 | TTN,TTN-AS1 | c.52911A= (p.Ile17637=) c.33996A= (p.Ile11332=) c.33795A= (p.Ile11265=) c.33420A= (p.Ile11140=) c.60615A= (p.Ile20205=) c.55692A= (p.Ile18564=) n.597-6486T= n.3189-29T= c.59712A= (p.Ile19904=) c.33606A= (p.Ile11202=) c.33465A= (p.Ile11155=) c.59508A= (p.Ile19836=) c.54906A= (p.Ile18302=) c.54903A= (p.Ile18301=) c.51945A= (p.Ile17315=) c.33561A= (p.Ile11187=) c.55056A= (p.Ile18352=) c.55053A= (p.Ile18351=) c.54486A= (p.Ile18162=) c.51828A= (p.Ile17276=) c.51747A= (p.Ile17249=) c.33510A= (p.Ile11170=) c.23364A= (p.Ile7788=) | |
2 | g.178591111A>C | CA349483555 | TTN,TTN-AS1 | c.52910T>G (p.Ile17637Arg) c.33995T>G (p.Ile11332Arg) c.33794T>G (p.Ile11265Arg) c.33419T>G (p.Ile11140Arg) c.60614T>G (p.Ile20205Arg) c.55691T>G (p.Ile18564Arg) n.597-6485A>C n.3189-28A>C c.59711T>G (p.Ile19904Arg) c.33605T>G (p.Ile11202Arg) c.33464T>G (p.Ile11155Arg) c.59507T>G (p.Ile19836Arg) c.54905T>G (p.Ile18302Arg) c.54902T>G (p.Ile18301Arg) c.51944T>G (p.Ile17315Arg) c.33560T>G (p.Ile11187Arg) c.55055T>G (p.Ile18352Arg) c.55052T>G (p.Ile18351Arg) c.54485T>G (p.Ile18162Arg) c.51827T>G (p.Ile17276Arg) c.51746T>G (p.Ile17249Arg) c.33509T>G (p.Ile11170Arg) c.23363T>G (p.Ile7788Arg) | |
2 | g.178591111A>G | CA349483561 | TTN,TTN-AS1 | c.52910T>C (p.Ile17637Thr) c.33995T>C (p.Ile11332Thr) c.33794T>C (p.Ile11265Thr) c.33419T>C (p.Ile11140Thr) c.60614T>C (p.Ile20205Thr) c.55691T>C (p.Ile18564Thr) n.597-6485A>G n.3189-28A>G c.59711T>C (p.Ile19904Thr) c.33605T>C (p.Ile11202Thr) c.33464T>C (p.Ile11155Thr) c.59507T>C (p.Ile19836Thr) c.54905T>C (p.Ile18302Thr) c.54902T>C (p.Ile18301Thr) c.51944T>C (p.Ile17315Thr) c.33560T>C (p.Ile11187Thr) c.55055T>C (p.Ile18352Thr) c.55052T>C (p.Ile18351Thr) c.54485T>C (p.Ile18162Thr) c.51827T>C (p.Ile17276Thr) c.51746T>C (p.Ile17249Thr) c.33509T>C (p.Ile11170Thr) c.23363T>C (p.Ile7788Thr) | |
2 | g.178591111A>T | CA349483568 | TTN,TTN-AS1 | c.52910T>A (p.Ile17637Lys) c.33995T>A (p.Ile11332Lys) c.33794T>A (p.Ile11265Lys) c.33419T>A (p.Ile11140Lys) c.60614T>A (p.Ile20205Lys) c.55691T>A (p.Ile18564Lys) n.597-6485A>T n.3189-28A>T c.59711T>A (p.Ile19904Lys) c.33605T>A (p.Ile11202Lys) c.33464T>A (p.Ile11155Lys) c.59507T>A (p.Ile19836Lys) c.54905T>A (p.Ile18302Lys) c.54902T>A (p.Ile18301Lys) c.51944T>A (p.Ile17315Lys) c.33560T>A (p.Ile11187Lys) c.55055T>A (p.Ile18352Lys) c.55052T>A (p.Ile18351Lys) c.54485T>A (p.Ile18162Lys) c.51827T>A (p.Ile17276Lys) c.51746T>A (p.Ile17249Lys) c.33509T>A (p.Ile11170Lys) c.23363T>A (p.Ile7788Lys) | |
2 | g.178591112T>A | CA349483572 | TTN,TTN-AS1 | c.52909A>T (p.Ile17637Leu) c.33994A>T (p.Ile11332Leu) c.33793A>T (p.Ile11265Leu) c.33418A>T (p.Ile11140Leu) c.60613A>T (p.Ile20205Leu) c.55690A>T (p.Ile18564Leu) n.597-6484T>A n.3189-27T>A c.59710A>T (p.Ile19904Leu) c.33604A>T (p.Ile11202Leu) c.33463A>T (p.Ile11155Leu) c.59506A>T (p.Ile19836Leu) c.54904A>T (p.Ile18302Leu) c.54901A>T (p.Ile18301Leu) c.51943A>T (p.Ile17315Leu) c.33559A>T (p.Ile11187Leu) c.55054A>T (p.Ile18352Leu) c.55051A>T (p.Ile18351Leu) c.54484A>T (p.Ile18162Leu) c.51826A>T (p.Ile17276Leu) c.51745A>T (p.Ile17249Leu) c.33508A>T (p.Ile11170Leu) c.23362A>T (p.Ile7788Leu) | |
2 | g.178591112T>C | CA349483574 | TTN,TTN-AS1 | c.52909A>G (p.Ile17637Val) c.33994A>G (p.Ile11332Val) c.33793A>G (p.Ile11265Val) c.33418A>G (p.Ile11140Val) c.60613A>G (p.Ile20205Val) c.55690A>G (p.Ile18564Val) n.597-6484T>C n.3189-27T>C c.59710A>G (p.Ile19904Val) c.33604A>G (p.Ile11202Val) c.33463A>G (p.Ile11155Val) c.59506A>G (p.Ile19836Val) c.54904A>G (p.Ile18302Val) c.54901A>G (p.Ile18301Val) c.51943A>G (p.Ile17315Val) c.33559A>G (p.Ile11187Val) c.55054A>G (p.Ile18352Val) c.55051A>G (p.Ile18351Val) c.54484A>G (p.Ile18162Val) c.51826A>G (p.Ile17276Val) c.51745A>G (p.Ile17249Val) c.33508A>G (p.Ile11170Val) c.23362A>G (p.Ile7788Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.178591112T>G | CA349483576 | TTN,TTN-AS1 | c.52909A>C (p.Ile17637Leu) c.33994A>C (p.Ile11332Leu) c.33793A>C (p.Ile11265Leu) c.33418A>C (p.Ile11140Leu) c.60613A>C (p.Ile20205Leu) c.55690A>C (p.Ile18564Leu) n.597-6484T>G n.3189-27T>G c.59710A>C (p.Ile19904Leu) c.33604A>C (p.Ile11202Leu) c.33463A>C (p.Ile11155Leu) c.59506A>C (p.Ile19836Leu) c.54904A>C (p.Ile18302Leu) c.54901A>C (p.Ile18301Leu) c.51943A>C (p.Ile17315Leu) c.33559A>C (p.Ile11187Leu) c.55054A>C (p.Ile18352Leu) c.55051A>C (p.Ile18351Leu) c.54484A>C (p.Ile18162Leu) c.51826A>C (p.Ile17276Leu) c.51745A>C (p.Ile17249Leu) c.33508A>C (p.Ile11170Leu) c.23362A>C (p.Ile7788Leu) | |
2 | g.178591112T= | CA1310539828 | TTN,TTN-AS1 | c.52909A= (p.Ile17637=) c.33994A= (p.Ile11332=) c.33793A= (p.Ile11265=) c.33418A= (p.Ile11140=) c.60613A= (p.Ile20205=) c.55690A= (p.Ile18564=) n.597-6484T= n.3189-27T= c.59710A= (p.Ile19904=) c.33604A= (p.Ile11202=) c.33463A= (p.Ile11155=) c.59506A= (p.Ile19836=) c.54904A= (p.Ile18302=) c.54901A= (p.Ile18301=) c.51943A= (p.Ile17315=) c.33559A= (p.Ile11187=) c.55054A= (p.Ile18352=) c.55051A= (p.Ile18351=) c.54484A= (p.Ile18162=) c.51826A= (p.Ile17276=) c.51745A= (p.Ile17249=) c.33508A= (p.Ile11170=) c.23362A= (p.Ile7788=) | |
2 | g.178591113C>A | CA430266488 | TTN,TTN-AS1 | c.52908G>T (p.Val17636=) c.33993G>T (p.Val11331=) c.33792G>T (p.Val11264=) c.33417G>T (p.Val11139=) c.60612G>T (p.Val20204=) c.55689G>T (p.Val18563=) n.597-6483C>A n.3189-26C>A c.59709G>T (p.Val19903=) c.33603G>T (p.Val11201=) c.33462G>T (p.Val11154=) c.59505G>T (p.Val19835=) c.54903G>T (p.Val18301=) c.54900G>T (p.Val18300=) c.51942G>T (p.Val17314=) c.33558G>T (p.Val11186=) c.55053G>T (p.Val18351=) c.55050G>T (p.Val18350=) c.54483G>T (p.Val18161=) c.51825G>T (p.Val17275=) c.51744G>T (p.Val17248=) c.33507G>T (p.Val11169=) c.23361G>T (p.Val7787=) | |
2 | g.178591113C= | CA1310539830 | TTN,TTN-AS1 | c.52908G= (p.Val17636=) c.33993G= (p.Val11331=) c.33792G= (p.Val11264=) c.33417G= (p.Val11139=) c.60612G= (p.Val20204=) c.55689G= (p.Val18563=) n.597-6483C= n.3189-26C= c.59709G= (p.Val19903=) c.33603G= (p.Val11201=) c.33462G= (p.Val11154=) c.59505G= (p.Val19835=) c.54903G= (p.Val18301=) c.54900G= (p.Val18300=) c.51942G= (p.Val17314=) c.33558G= (p.Val11186=) c.55053G= (p.Val18351=) c.55050G= (p.Val18350=) c.54483G= (p.Val18161=) c.51825G= (p.Val17275=) c.51744G= (p.Val17248=) c.33507G= (p.Val11169=) c.23361G= (p.Val7787=) | |
2 | g.178591113C>G | CA430266489 | TTN,TTN-AS1 | c.52908G>C (p.Val17636=) c.33993G>C (p.Val11331=) c.33792G>C (p.Val11264=) c.33417G>C (p.Val11139=) c.60612G>C (p.Val20204=) c.55689G>C (p.Val18563=) n.597-6483C>G n.3189-26C>G c.59709G>C (p.Val19903=) c.33603G>C (p.Val11201=) c.33462G>C (p.Val11154=) c.59505G>C (p.Val19835=) c.54903G>C (p.Val18301=) c.54900G>C (p.Val18300=) c.51942G>C (p.Val17314=) c.33558G>C (p.Val11186=) c.55053G>C (p.Val18351=) c.55050G>C (p.Val18350=) c.54483G>C (p.Val18161=) c.51825G>C (p.Val17275=) c.51744G>C (p.Val17248=) c.33507G>C (p.Val11169=) c.23361G>C (p.Val7787=) | |
2 | g.178591113C>T | CA60969652 | TTN,TTN-AS1 | c.52908G>A (p.Val17636=) c.33993G>A (p.Val11331=) c.33792G>A (p.Val11264=) c.33417G>A (p.Val11139=) c.60612G>A (p.Val20204=) c.55689G>A (p.Val18563=) n.597-6483C>T n.3189-26C>T c.59709G>A (p.Val19903=) c.33603G>A (p.Val11201=) c.33462G>A (p.Val11154=) c.59505G>A (p.Val19835=) c.54903G>A (p.Val18301=) c.54900G>A (p.Val18300=) c.51942G>A (p.Val17314=) c.33558G>A (p.Val11186=) c.55053G>A (p.Val18351=) c.55050G>A (p.Val18350=) c.54483G>A (p.Val18161=) c.51825G>A (p.Val17275=) c.51744G>A (p.Val17248=) c.33507G>A (p.Val11169=) c.23361G>A (p.Val7787=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.178591114A>C | CA349483579 | TTN,TTN-AS1 | c.52907T>G (p.Val17636Gly) c.33992T>G (p.Val11331Gly) c.33791T>G (p.Val11264Gly) c.33416T>G (p.Val11139Gly) c.60611T>G (p.Val20204Gly) c.55688T>G (p.Val18563Gly) n.597-6482A>C n.3189-25A>C c.59708T>G (p.Val19903Gly) c.33602T>G (p.Val11201Gly) c.33461T>G (p.Val11154Gly) c.59504T>G (p.Val19835Gly) c.54902T>G (p.Val18301Gly) c.54899T>G (p.Val18300Gly) c.51941T>G (p.Val17314Gly) c.33557T>G (p.Val11186Gly) c.55052T>G (p.Val18351Gly) c.55049T>G (p.Val18350Gly) c.54482T>G (p.Val18161Gly) c.51824T>G (p.Val17275Gly) c.51743T>G (p.Val17248Gly) c.33506T>G (p.Val11169Gly) c.23360T>G (p.Val7787Gly) | |
2 | g.178591114A>G | CA349483581 | TTN,TTN-AS1 | c.52907T>C (p.Val17636Ala) c.33992T>C (p.Val11331Ala) c.33791T>C (p.Val11264Ala) c.33416T>C (p.Val11139Ala) c.60611T>C (p.Val20204Ala) c.55688T>C (p.Val18563Ala) n.597-6482A>G n.3189-25A>G c.59708T>C (p.Val19903Ala) c.33602T>C (p.Val11201Ala) c.33461T>C (p.Val11154Ala) c.59504T>C (p.Val19835Ala) c.54902T>C (p.Val18301Ala) c.54899T>C (p.Val18300Ala) c.51941T>C (p.Val17314Ala) c.33557T>C (p.Val11186Ala) c.55052T>C (p.Val18351Ala) c.55049T>C (p.Val18350Ala) c.54482T>C (p.Val18161Ala) c.51824T>C (p.Val17275Ala) c.51743T>C (p.Val17248Ala) c.33506T>C (p.Val11169Ala) c.23360T>C (p.Val7787Ala) | |
2 | g.178591114A>T | CA349483584 | TTN,TTN-AS1 | c.52907T>A (p.Val17636Glu) c.33992T>A (p.Val11331Glu) c.33791T>A (p.Val11264Glu) c.33416T>A (p.Val11139Glu) c.60611T>A (p.Val20204Glu) c.55688T>A (p.Val18563Glu) n.597-6482A>T n.3189-25A>T c.59708T>A (p.Val19903Glu) c.33602T>A (p.Val11201Glu) c.33461T>A (p.Val11154Glu) c.59504T>A (p.Val19835Glu) c.54902T>A (p.Val18301Glu) c.54899T>A (p.Val18300Glu) c.51941T>A (p.Val17314Glu) c.33557T>A (p.Val11186Glu) c.55052T>A (p.Val18351Glu) c.55049T>A (p.Val18350Glu) c.54482T>A (p.Val18161Glu) c.51824T>A (p.Val17275Glu) c.51743T>A (p.Val17248Glu) c.33506T>A (p.Val11169Glu) c.23360T>A (p.Val7787Glu) | |
2 | g.178591115C>A | CA349483589 | TTN,TTN-AS1 | c.52906G>T (p.Val17636Leu) c.33991G>T (p.Val11331Leu) c.33790G>T (p.Val11264Leu) c.33415G>T (p.Val11139Leu) c.60610G>T (p.Val20204Leu) c.55687G>T (p.Val18563Leu) n.597-6481C>A n.3189-24C>A c.59707G>T (p.Val19903Leu) c.33601G>T (p.Val11201Leu) c.33460G>T (p.Val11154Leu) c.59503G>T (p.Val19835Leu) c.54901G>T (p.Val18301Leu) c.54898G>T (p.Val18300Leu) c.51940G>T (p.Val17314Leu) c.33556G>T (p.Val11186Leu) c.55051G>T (p.Val18351Leu) c.55048G>T (p.Val18350Leu) c.54481G>T (p.Val18161Leu) c.51823G>T (p.Val17275Leu) c.51742G>T (p.Val17248Leu) c.33505G>T (p.Val11169Leu) c.23359G>T (p.Val7787Leu) | |
2 | g.178591115C>G | CA349483591 | TTN,TTN-AS1 | c.52906G>C (p.Val17636Leu) c.33991G>C (p.Val11331Leu) c.33790G>C (p.Val11264Leu) c.33415G>C (p.Val11139Leu) c.60610G>C (p.Val20204Leu) c.55687G>C (p.Val18563Leu) n.597-6481C>G n.3189-24C>G c.59707G>C (p.Val19903Leu) c.33601G>C (p.Val11201Leu) c.33460G>C (p.Val11154Leu) c.59503G>C (p.Val19835Leu) c.54901G>C (p.Val18301Leu) c.54898G>C (p.Val18300Leu) c.51940G>C (p.Val17314Leu) c.33556G>C (p.Val11186Leu) c.55051G>C (p.Val18351Leu) c.55048G>C (p.Val18350Leu) c.54481G>C (p.Val18161Leu) c.51823G>C (p.Val17275Leu) c.51742G>C (p.Val17248Leu) c.33505G>C (p.Val11169Leu) c.23359G>C (p.Val7787Leu) | |
2 | g.178591115C>T | CA349483593 | TTN,TTN-AS1 | c.52906G>A (p.Val17636Met) c.33991G>A (p.Val11331Met) c.33790G>A (p.Val11264Met) c.33415G>A (p.Val11139Met) c.60610G>A (p.Val20204Met) c.55687G>A (p.Val18563Met) n.597-6481C>T n.3189-24C>T c.59707G>A (p.Val19903Met) c.33601G>A (p.Val11201Met) c.33460G>A (p.Val11154Met) c.59503G>A (p.Val19835Met) c.54901G>A (p.Val18301Met) c.54898G>A (p.Val18300Met) c.51940G>A (p.Val17314Met) c.33556G>A (p.Val11186Met) c.55051G>A (p.Val18351Met) c.55048G>A (p.Val18350Met) c.54481G>A (p.Val18161Met) c.51823G>A (p.Val17275Met) c.51742G>A (p.Val17248Met) c.33505G>A (p.Val11169Met) c.23359G>A (p.Val7787Met) | |
2 | g.178591116A= | CA1310539832 | TTN,TTN-AS1 | c.52905T= (p.Pro17635=) c.33990T= (p.Pro11330=) c.33789T= (p.Pro11263=) c.33414T= (p.Pro11138=) c.60609T= (p.Pro20203=) c.55686T= (p.Pro18562=) n.597-6480A= n.3189-23A= c.59706T= (p.Pro19902=) c.33600T= (p.Pro11200=) c.33459T= (p.Pro11153=) c.59502T= (p.Pro19834=) c.54900T= (p.Pro18300=) c.54897T= (p.Pro18299=) c.51939T= (p.Pro17313=) c.33555T= (p.Pro11185=) c.55050T= (p.Pro18350=) c.55047T= (p.Pro18349=) c.54480T= (p.Pro18160=) c.51822T= (p.Pro17274=) c.51741T= (p.Pro17247=) c.33504T= (p.Pro11168=) c.23358T= (p.Pro7786=) | |
2 | g.178591116A>C | CA430266490 | TTN,TTN-AS1 | c.52905T>G (p.Pro17635=) c.33990T>G (p.Pro11330=) c.33789T>G (p.Pro11263=) c.33414T>G (p.Pro11138=) c.60609T>G (p.Pro20203=) c.55686T>G (p.Pro18562=) n.597-6480A>C n.3189-23A>C c.59706T>G (p.Pro19902=) c.33600T>G (p.Pro11200=) c.33459T>G (p.Pro11153=) c.59502T>G (p.Pro19834=) c.54900T>G (p.Pro18300=) c.54897T>G (p.Pro18299=) c.51939T>G (p.Pro17313=) c.33555T>G (p.Pro11185=) c.55050T>G (p.Pro18350=) c.55047T>G (p.Pro18349=) c.54480T>G (p.Pro18160=) c.51822T>G (p.Pro17274=) c.51741T>G (p.Pro17247=) c.33504T>G (p.Pro11168=) c.23358T>G (p.Pro7786=) | gnomAD v4 |
2 | g.178591116A>G | CA430266492 | TTN,TTN-AS1 | c.52905T>C (p.Pro17635=) c.33990T>C (p.Pro11330=) c.33789T>C (p.Pro11263=) c.33414T>C (p.Pro11138=) c.60609T>C (p.Pro20203=) c.55686T>C (p.Pro18562=) n.597-6480A>G n.3189-23A>G c.59706T>C (p.Pro19902=) c.33600T>C (p.Pro11200=) c.33459T>C (p.Pro11153=) c.59502T>C (p.Pro19834=) c.54900T>C (p.Pro18300=) c.54897T>C (p.Pro18299=) c.51939T>C (p.Pro17313=) c.33555T>C (p.Pro11185=) c.55050T>C (p.Pro18350=) c.55047T>C (p.Pro18349=) c.54480T>C (p.Pro18160=) c.51822T>C (p.Pro17274=) c.51741T>C (p.Pro17247=) c.33504T>C (p.Pro11168=) c.23358T>C (p.Pro7786=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.178591116A>T | CA430266493 | TTN,TTN-AS1 | c.52905T>A (p.Pro17635=) c.33990T>A (p.Pro11330=) c.33789T>A (p.Pro11263=) c.33414T>A (p.Pro11138=) c.60609T>A (p.Pro20203=) c.55686T>A (p.Pro18562=) n.597-6480A>T n.3189-23A>T c.59706T>A (p.Pro19902=) c.33600T>A (p.Pro11200=) c.33459T>A (p.Pro11153=) c.59502T>A (p.Pro19834=) c.54900T>A (p.Pro18300=) c.54897T>A (p.Pro18299=) c.51939T>A (p.Pro17313=) c.33555T>A (p.Pro11185=) c.55050T>A (p.Pro18350=) c.55047T>A (p.Pro18349=) c.54480T>A (p.Pro18160=) c.51822T>A (p.Pro17274=) c.51741T>A (p.Pro17247=) c.33504T>A (p.Pro11168=) c.23358T>A (p.Pro7786=) | |
2 | g.178591117G>A | CA1992469 | TTN,TTN-AS1 | c.52904C>T (p.Pro17635Leu) c.33989C>T (p.Pro11330Leu) c.33788C>T (p.Pro11263Leu) c.33413C>T (p.Pro11138Leu) c.60608C>T (p.Pro20203Leu) c.55685C>T (p.Pro18562Leu) n.597-6479G>A n.3189-22G>A c.59705C>T (p.Pro19902Leu) c.33599C>T (p.Pro11200Leu) c.33458C>T (p.Pro11153Leu) c.59501C>T (p.Pro19834Leu) c.54899C>T (p.Pro18300Leu) c.54896C>T (p.Pro18299Leu) c.51938C>T (p.Pro17313Leu) c.33554C>T (p.Pro11185Leu) c.55049C>T (p.Pro18350Leu) c.55046C>T (p.Pro18349Leu) c.54479C>T (p.Pro18160Leu) c.51821C>T (p.Pro17274Leu) c.51740C>T (p.Pro17247Leu) c.33503C>T (p.Pro11168Leu) c.23357C>T (p.Pro7786Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |